Rare Dermatology News
Disease Profile
Cerebelloparenchymal disorder 3
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Adolescent
ICD-10
G11.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Autosomal recessive cerebelloparenchymal disorder type 3; Spinocerebellar ataxia, autosomal recessive 2; SCAR2;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1170
Definition
The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia , in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive . In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.
Visit the Orphanet disease page for more resources.
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Delayed ability to walk | 0031936 | |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
|
Difficulty articulating speech
|
0001260 | |
| Dysmetria |
Lack of coordination of movement
|
0001310 |
| Gait |
Inability to coordinate movements when walking
|
0002066 |
| Gaze-evoked |
0000640 | |
| Global |
0001263 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| 30%-79% of people have these symptoms | ||
| Brisk reflexes | 0001348 | |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebellar vermis atrophy | 0006855 | |
| Diffuse cerebral atrophy | 0002506 | |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Oculomotor apraxia | 0000657 | |
| Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
| Poor motor coordination | 0002275 | |
| Progressive psychomotor deterioration | 0007272 | |
| 5%-29% of people have these symptoms | ||
| Dilated fourth ventricle | 0002198 | |
| Enlarged cisterna magna | 0002280 | |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
| Impaired visuospatial constructive cognition | 0010794 | |
| Lactic acidosis |
Increased lactate in body
|
0003128 |
| Nystagmus |
Involuntary, rapid, rhythmic eye movements
|
0000639 |
| Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
| 0009830 | ||
| Pes cavus |
High-arched foot
|
0001761 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| Tremor | 0001337 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Gliosis | 0002171 | |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Incoordination |
Difficulties in coordination
Incoordination of limb movements
Limb incoordination
[ more ] |
0002311 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
| Limb ataxia | 0002070 | |
| Nonprogressive | 0003680 | |
| Saccadic smooth pursuit | 0001152 | |
| Unsteady gait |
Unsteady walk
|
0002317 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
National Ataxia Foundation
600 Highway 169 South
Suite 1725
Minneapolis, MN 55426
Telephone: +1-763-553-0020
Fax: +1-763-553-0167
E-mail: [email protected]
Website: https://ataxia.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.